Flashcards in Rare Chromosomal Fragile Sites Deck (30):
What are examples of Group 1 RFS?
- Folate Sensitive.
What are examples of Group 2 RFS?
- Dystamycin A Inducible.
What are examples of Group 3 RFS?
- BrdU requiring.
Features of Fragile X Syndrome?
- Mental retardation,
- Dysmorphic features.
- Behaviour problems.
What are the phenotypes of Fragile X Syndrome?
What is the genetics of Fragile X Syndrome?
What is the Sherman Paradox?
- Non mendelian.
What is the cytogenetics of Fragile X syndrome?
What is the repeat expansion in Fragile X Syndrome families?
- Full mutation.
What is the relationship between FRAXA CCG copy number and instability?
What symptoms do FRAXA premutation carriers exhibit?
How many copies do premutation carriers have?
What is the molecular basis of the sherman paradox?
Define founder effect.
Define founder chromosome.
What is the evidence of founder chromosomes in Fragile X Syndrome?
Common pathway of repeat expansion?
What are the properties of the unstable CCG trinucleotide repeat?
How does FRAXA CCG mutation lead to the inactivation of the FMR1 gene?
What is FMRP?
Funciton of FMRP?
How does loss of FMR1 gene function result in Fragile X Syndrome?
MPEP: Pharmological rescue experiment.
True or False?
CBL2 (p(CCG)n is expanded in FRA16D individuals?
False. FRA11B individuals.
What fragile site is associated with jacobson syndrome?
What is FRA16A due to?
WHat are examples of non-folate sensitive rare fragile sites?
FRA16B fragile site is due to _____ expansions.
What have studies on FRA10B shown?